Mutations

Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
FAM71F1 ENSG00000135248 ENST00000485070 p.Q234L c.701A>T Missense_Mutation -
PRSS36 ENSG00000178226 ENST00000268281 p.G651A c.1952G>C Missense_Mutation -
PCDHB4 ENSG00000081818 ENST00000194152 p.E39* c.115G>T Nonsense_Mutation -
CYLC2 ENSG00000155833 ENST00000374798 p.K193N c.579A>C Missense_Mutation -
LRRK2 ENSG00000188906 ENST00000298910 p.L1304H c.3911T>A Missense_Mutation -
LRRK2 ENSG00000188906 ENST00000298910 p.K1383Q c.4147A>C Missense_Mutation -
C1orf189 ENSG00000163263 ENST00000368525 p.V98E c.293T>A Missense_Mutation -
TLR2 ENSG00000137462 ENST00000260010 p.Q187L c.560A>T Missense_Mutation -
IVNS1ABP ENSG00000116679 ENST00000367498 NA NA De_novo_Start_OutOfFrame -
BRF1 ENSG00000185024 ENST00000546474 p.S564C c.1690A>T Missense_Mutation -